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Combined genetic analysis of juvenile idiopathic arthritis clinical subtypes identifies novel risk loci, target genes and key regulatory mechanisms

Annals of Rheumatic Diseases Oct 29, 2020

López-Isac E, Smith SL, Marion MC, et al. - This study was intended to distinguish novel juvenile idiopathic arthritis (JIA) susceptibility variants and link these variants to target genes, which is essential to facilitate the translation of genetic discoveries to clinical benefit. Researchers conducted a genome-wide association study (GWAS) including a total of 3,305 patients and 9,196 healthy controls and applied a Bayesian model selection approach to systematically evaluate specificity and sharing of associated loci across JIA clinical subtypes. They distinguish five novel risk loci and present the potential function of JIA correlation signals that will be informative for future experimental works and therapeutic strategies in a large JIA GWAS.

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